MovDisordV3, Main, Merge, bibRecord, 002752

Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis

Identifieur interne : 002752 ( Main/Merge ); précédent : 002751; suivant : 002753

Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis

Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Anthony E. Lang [Canada] ; Elena Moro [Canada] ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Kailash P. Bhatia [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0377353

Descripteurs français

Pascal (Inist)
- Syndrome choréique, Acanthocytose, Pathologie du système nerveux, Tête, Tronc.

English descriptors

KwdEn :
- Acanthocytosis, Chorea, Head, Nervous system diseases, Trunk.

Abstract

Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000985
to stream PascalFrancis, to step Curation: 002334
to stream PascalFrancis, to step Checkpoint: 000B65

Links to Exploration step

Pascal:10-0377353

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</title>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
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<author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
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<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
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<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
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<s3>DEU</s3>
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<country>Allemagne</country>
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<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
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<s3>DEU</s3>
<sZ>4 aut.</sZ>
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<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
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<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
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</titleStmt>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</title>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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<sZ>6 aut.</sZ>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1>
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<s3>DEU</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
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</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
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</author>
<author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytosis</term>
<term>Chorea</term>
<term>Head</term>
<term>Nervous system diseases</term>
<term>Trunk</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term>
<term>Acanthocytose</term>
<term>Pathologie du   système nerveux</term>
<term>Tête</term>
<term>Tronc</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en">Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Grand Londres</li>
<li>Ontario</li>
</region>
<settlement><li>Londres</li>
<li>Munich</li>
<li>Toronto</li>
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<orgName><li>Université Louis-et-Maximilien de Munich</li>
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<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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<name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
</region>
<name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis

Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri